SHORT STATURE

PROBLEM–BASED LEARNING
CASE SCENARIO

• A 2-year-old boy presented with mother complaining of Baby being short. On history taking ,the Child
had have prolonged physiological jaundice persisted behind his first month of age.
• The condition was associated with prolonged sleeping hours compared to his sibling at the same age
and he had weak cry.
• Normal nutritional history
• Developmental history noticeably delayed. He started head support at 4 months, sitting at 10 months
and walking just 2 months ago. He only says less than 5 words.(delayed milestone)
EXAMINATION

General look: the patients looks spathic with sub average mentality
Vital signs: HR 80/min
RR: 30/min
Temp.: 36.5 C
BP : 90/55mmHg
Measurements ; weight < 5th percentile
Height < 3rd percentile
Upper / lower segments : 1.7/1
EXAMINATION
Head and neck : opened anterior and posterior fontanels
Coarse hair with low frontal hair line
Buffy eye lids
Protruded tongue and pale libs
• Delayed dentition
• Short neck
• Upper and lower limbs. Short limbs with broad hands, cold skin
• Chest and abdomen examination : abdominal distention and umbilical hernia
• Neurological examination: hypotonia and hyporeflexia.
• Findings are highly suggestive of congenital hypothyroidism
DEFINITION OF SHORT STATURE

Height below 5th percentile for age and sex according to Growth Chart
Figure showing
Birth to 36 months
Length for age and weight for age percentile
TYPES OF SHORT STATURE

• Proportional short stature

-Normal variants
-pathological

• Disproportionate
-Short limps
-Short trunk
 NORMAL PROPORTIONATE SHORT STATURE

Familial short stature Constitutional delay of growth

• Most common cause • More common in boys

• Family history is poistive for short stature • Family history of delay in growth and puberty
• Normal height parents
• Short health since birth
• Normal height at birth
• Normal growth velocity
• Transit declaration of growth
• Normal bone age
• Delayed bone age
• Normal puberty • Delayed puberty
• Adult hight is short • Adult height is normal
• GH may be useful • GH not useful, Reassurance maybe the only treatment
PATHOLOGICAL SHORT STATURE

Proportionate Disproportionate
• Chronic disease • Skeletal dysplasia:
Congenital heart diseases ,CKD ,Chronic respiratory failure ,GIT
diseases e.g. celiac
Achondroplasia ,Hypochondroplasia ,
• .Malnutritionn Spondyloepiphyseal
• .Chronic parasitic infestation.
dysplasia ,Mucopolysaccharidosis.
• Endocrinal Diseases
-GH deficiency , Hypothyroidism ,Cushing syndrome. • Rickets
Psychological & emotional deprivation.
• Genetic syndromes : Down syndrome
EVALUATION OF SHORT STATURE

• History
-family history of short stature, delayed puberty or genetic disease
-history of chronic illnes or socioeconomic problems
-nutritional history
-history of drug intake eg steroids

. Examination
-height measure for patient, parents, siblings
-length patient upper segment and lower segment and the Ratio
EVALUATION OF SHORT STATURE

• Investigation
- Bone age assessment: x-ray of the non dominant hand (endocrinal causes)
- Karytyping : routine for short female exculed Turner syndrome (45X0)
- Anti-tissue transglutaminase : assessment of Celiac disease
- Skeletal survey: assessment of Achondroplasia and Rickets
- Hornonal Assay : for endocrinal causes detected by x-ray
- -Thyroid profile
- -Growth hormone stimulation tests
- -steroids and ACTH
EVALUATION OF SHORT STATURE
Further investigation
Sweat chloride test : detection of Cystic Fibrosis
Imaging
CT brain
MRI Brain : in case of panhypopituitarism
EVALUATOIN OF CONGENITAL
HYPOTHYROIDISM
• History
-Antenatal :maternal use of antithyroid drugs eg carbimazole
maternal exopusre to external radiation

Examination: clinical findings suggesting hypothyroidism

. Investigation
-Neonatal screening
-thyroid profile T3,T4,TSH
Imaging
-X-ray: delayed bone age
-Thyroid scanning : Differentiate between Aplasia, ectopic dysplasia and malfunction
-Thyroid ultrasound
EVALUATION OF CONGENITAL
HYPOTHYROIDISM
Examination
Widely opend Ant and post fonatales
Low anterior hair line
Swollen eyelid
Large protruded tonge
Delayed dentition
Pale dry yellow skin
Distended abdomen and abdominal hernia
Short limps
EVALUATION OF CONGENITAL
HYPOTHYROIDISM
Neonatal screening:
Done at 3rd -7th day after birth (TSH based screen)
Blood drop obtained by heel prick on filter paper and analyzed for TSH
TSH >20mU/L ,blood sample is obtained and analyzed
Start treatment immediately
EVALUATION OF CONGENITAL
HYPOTHYROIDISM
Imaging:
Thyroid scanning
Shows normal Functioning thyroid tissue
TREATMENT OF CONGENITAL
HYPOTHYROIDISM
L-thyroxine for life
Started 2-3 weeks of age to decrease the risk of MR
Dose Neonates 10-15 micrograms/kg/day
Children 100microgram/m²/day